Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199589947
rs199589947
LARS2 ; LARS2-AS1
0.710 GeneticVariation BEFREE A family was homozygous for mitochondrial leucyl aminocyl tRNA synthetase (mtLeuRS) (LARS2) p.(Thr522Asn), previously associated with Perrault syndrome. 26970254

2017
dbSNP: rs199589947
rs199589947
LARS2 ; LARS2-AS1
A 0.710 CausalMutation CLINVAR

dbSNP: rs786205560
rs786205560
LARS2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs200089613
rs200089613
HARS2
0.010 GeneticVariation BEFREE The low prevalence of the allele HARS2 c.1439G>A p.(Arg480His) in the general population and its presence in three families with hearing loss, confirm the pathogenicity of this variant and illustrate the presentation of Perrault syndrome as nonsyndromic hearing loss in males and prepubertal females. 31827252

2020
dbSNP: rs141315771
rs141315771
TWNK
0.010 GeneticVariation BEFREE Mutation c.1196A>G (p.Asn399Ser) recurred for the first time in a patient with PRLTS and the second mutation c.1802G>A (p.Arg601Gln) was novel for the disorder. 28178980

2017
dbSNP: rs374161061
rs374161061
HSD17B4
0.010 GeneticVariation BEFREE Mutation c.1196A>G (p.Asn399Ser) recurred for the first time in a patient with PRLTS and the second mutation c.1802G>A (p.Arg601Gln) was novel for the disorder. 28178980

2017
dbSNP: rs773142741
rs773142741
LARS2 ; LARS2-AS1
0.010 GeneticVariation BEFREE Mutation c.1196A>G (p.Asn399Ser) recurred for the first time in a patient with PRLTS and the second mutation c.1802G>A (p.Arg601Gln) was novel for the disorder. 28178980

2017
dbSNP: rs863223921
rs863223921
TWNK ; MRPL43
0.010 GeneticVariation BEFREE Mutation c.1196A>G (p.Asn399Ser) recurred for the first time in a patient with PRLTS and the second mutation c.1802G>A (p.Arg601Gln) was novel for the disorder. 28178980

2017
dbSNP: rs863223921
rs863223921
TWNK ; MRPL43
0.010 GeneticVariation BEFREE Mutation c.1196A>G (p.Asn399Ser) recurred for the first time in a patient with PRLTS and the second mutation c.1802G>A (p.Arg601Gln) was novel for the disorder. 28178980

2017
dbSNP: rs1468024757
rs1468024757
HARS1
0.010 GeneticVariation BEFREE In a nonconsanguineous family with five affected siblings, linkage analysis and genomic sequencing revealed the genetic basis of Perrault syndrome to be compound heterozygosity for mutations in the mitochondrial histidyl tRNA synthetase HARS2 at two highly conserved amino acids, L200V and V368L. 21464306

2011
dbSNP: rs376177973
rs376177973
HARS2
0.010 GeneticVariation BEFREE In a nonconsanguineous family with five affected siblings, linkage analysis and genomic sequencing revealed the genetic basis of Perrault syndrome to be compound heterozygosity for mutations in the mitochondrial histidyl tRNA synthetase HARS2 at two highly conserved amino acids, L200V and V368L. 21464306

2011
dbSNP: rs397515410
rs397515410
HARS2
0.010 GeneticVariation BEFREE In a nonconsanguineous family with five affected siblings, linkage analysis and genomic sequencing revealed the genetic basis of Perrault syndrome to be compound heterozygosity for mutations in the mitochondrial histidyl tRNA synthetase HARS2 at two highly conserved amino acids, L200V and V368L. 21464306

2011
dbSNP: rs755882900
rs755882900
HARS1
0.010 GeneticVariation BEFREE In a nonconsanguineous family with five affected siblings, linkage analysis and genomic sequencing revealed the genetic basis of Perrault syndrome to be compound heterozygosity for mutations in the mitochondrial histidyl tRNA synthetase HARS2 at two highly conserved amino acids, L200V and V368L. 21464306

2011